Aliases for TLDC2 Gene

Aliases for TLDC2 Gene

  • TBC/LysM-Associated Domain Containing 2 2 3 5
  • TBC/LysM-Associated Domain-Containing Protein 2 3 4
  • TLD Domain-Containing Protein 2 3 4
  • Chromosome 20 Open Reading Frame 118 2
  • Hypothetical Protein LOC140711 2
  • TLD Domain Containing 2 2
  • C20orf118 3

External Ids for TLDC2 Gene

Previous HGNC Symbols for TLDC2 Gene

  • C20orf118

Previous GeneCards Identifiers for TLDC2 Gene

  • GC20P035505

Summaries for TLDC2 Gene

GeneCards Summary for TLDC2 Gene

TLDC2 (TBC/LysM-Associated Domain Containing 2) is a Protein Coding gene. Diseases associated with TLDC2 include Aicardi-Goutieres Syndrome 5 and Aicardi-Goutieres Syndrome. An important paralog of this gene is OXR1.

Additional gene information for TLDC2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TLDC2 Gene

Genomics for TLDC2 Gene

GeneHancer (GH) Regulatory Elements for TLDC2 Gene

Promoters and enhancers for TLDC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J036875 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 750.6 -0.1 -135 1.6 RBPJ NR2F6 IKZF1 ZNF644 KAT8 ZNF24 IKZF2 GATAD2A RXRB ZSCAN4 TLDC2 DSN1 RAB5IF RF00017-3574 RN7SL156P lnc-TLDC2-2
GH20J036874 Promoter/Enhancer 0.8 EPDnew dbSUPER 750.6 -3.0 -3036 0.1 NFIB ZIC2 NFIC NFIA TLDC2 RN7SL156P RF00017-3574 lnc-TLDC2-2
GH20J035951 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 23.3 -922.2 -922242 3.8 ZNF785 SIN3A SP1 ZBTB40 CTCF SREBF1 SIX5 ZBTB6 FOXA1 MLX CNBD2 SCAND1 CPNE1 RBM12 AAR2 ERGIC3 RBM39 TRPC4AP EIF6 RPL36P4
GH20J036854 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.2 -17.0 -16965 11.7 SIN3A ZNF24 ZBTB40 CTCF SMARCE1 RBPJ POLR2A CTBP1 ZNF217 TRIM22 RBL1 AAR2 RPN2 SOGA1 TGIF2 TLDC2 DSN1 NDRG3 DLGAP4-AS1 MANBAL
GH20J036604 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.2 -269.5 -269456 4.7 SP1 ZBTB40 CTCF LCORL FOXA1 MLX SMARCE1 RBPJ POLR2A NR2F1 RAB5IF lnc-SLA2-1 RBM12 RBL1 RBM39 AAR2 CPNE1 RPN2 TGIF2 TLDC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TLDC2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TLDC2 Gene

Genomic Locations for TLDC2 Gene
chr20:36,876,121-36,894,235
(GRCh38/hg38)
Size:
18,115 bases
Orientation:
Plus strand
chr20:35,504,524-35,522,638
(GRCh37/hg19)
Size:
18,115 bases
Orientation:
Plus strand

Genomic View for TLDC2 Gene

Genes around TLDC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLDC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLDC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLDC2 Gene

Proteins for TLDC2 Gene

  • Protein details for TLDC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0PJX2-TLDC2_HUMAN
    Recommended name:
    TLD domain-containing protein 2
    Protein Accession:
    A0PJX2
    Secondary Accessions:
    • B3KVU8

    Protein attributes for TLDC2 Gene

    Size:
    215 amino acids
    Molecular mass:
    23912 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TLDC2 Gene

Post-translational modifications for TLDC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TLDC2 Gene

No data available for DME Specific Peptides for TLDC2 Gene

Domains & Families for TLDC2 Gene

Gene Families for TLDC2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TLDC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TLDC2 Gene

GenScript: Design optimal peptide antigens:
  • Chromosome 20 open reading frame 118 (A2A2J3_HUMAN)
  • Chromosome 20 open reading frame 118, isoform CRA_a (E1P5V1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A0PJX2

UniProtKB/Swiss-Prot:

TLDC2_HUMAN :
  • Belongs to the OXR1 family.
Family:
  • Belongs to the OXR1 family.
genes like me logo Genes that share domains with TLDC2: view

Function for TLDC2 Gene

Phenotypes From GWAS Catalog for TLDC2 Gene

genes like me logo Genes that share phenotypes with TLDC2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLDC2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TLDC2 Gene

Localization for TLDC2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TLDC2 gene
Compartment Confidence
nucleus 2
cytosol 1
extracellular 0
mitochondrion 0
peroxisome 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for TLDC2 Gene

Pathways & Interactions for TLDC2 Gene

PathCards logo

SuperPathways for TLDC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TLDC2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TLDC2 Gene

Drugs & Compounds for TLDC2 Gene

No Compound Related Data Available

Transcripts for TLDC2 Gene

mRNA/cDNA for TLDC2 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLDC2

Alternative Splicing Database (ASD) splice patterns (SP) for TLDC2 Gene

No ASD Table

Relevant External Links for TLDC2 Gene

GeneLoc Exon Structure for
TLDC2
ECgene alternative splicing isoforms for
TLDC2

Expression for TLDC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TLDC2 Gene

mRNA differential expression in normal tissues according to GTEx for TLDC2 Gene

This gene is overexpressed in Colon - Transverse (x15.3), Small Intestine - Terminal Ileum (x13.4), and Kidney - Cortex (x7.0).

NURSA nuclear receptor signaling pathways regulating expression of TLDC2 Gene:

TLDC2

SOURCE GeneReport for Unigene cluster for TLDC2 Gene:

Hs.472630
genes like me logo Genes that share expression patterns with TLDC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TLDC2 Gene

Orthologs for TLDC2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TLDC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TLDC2 33 32
  • 99.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TLDC2 33 32
  • 86.05 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TLDC2 33 32
  • 84.81 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tldc2 32
  • 83.02 (n)
mouse
(Mus musculus)
Mammalia Tldc2 17 33 32
  • 82.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TLDC2 33
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TLDC2 33
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves TLDC2 33 32
  • 66.27 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TLDC2 33
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tldc2 32
  • 57.05 (n)
zebrafish
(Danio rerio)
Actinopterygii TLDC2 33
  • 13 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mtd 33
  • 7 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lmd-3 33
  • 9 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL078W 32
  • 51.57 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E19449g 32
  • 45.56 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OXR1 35 32
  • 43.33 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02394 32
  • 44.33 (n)
Species where no ortholog for TLDC2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TLDC2 Gene

ENSEMBL:
Gene Tree for TLDC2 (if available)
TreeFam:
Gene Tree for TLDC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TLDC2: view image

Paralogs for TLDC2 Gene

Paralogs for TLDC2 Gene

(3) SIMAP similar genes for TLDC2 Gene using alignment to 2 proteins:

  • TLDC2_HUMAN
  • A2A2J3_HUMAN
genes like me logo Genes that share paralogs with TLDC2: view

Variants for TLDC2 Gene

Sequence variations from dbSNP and Humsavar for TLDC2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs114791229 likely-benign, Chilblain Lupus, Aicardi Goutieres syndrome 36,892,644(+) T/C genic_downstream_transcript_variant, intron_variant
rs115645414 likely-benign, Chilblain Lupus, Aicardi Goutieres syndrome 36,892,887(+) G/A/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs116489517 likely-benign, Chilblain Lupus, Aicardi Goutieres syndrome 36,891,924(+) G/C genic_downstream_transcript_variant, intron_variant
rs138927042 likely-benign, Chilblain Lupus, Aicardi Goutieres syndrome 36,892,861(+) G/T genic_downstream_transcript_variant, splice_acceptor_variant
rs143588093 uncertain-significance, Chilblain Lupus, Aicardi Goutieres syndrome 36,892,692(+) C/A/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TLDC2 Gene

Variant ID Type Subtype PubMed ID
esv3645741 CNV gain 21293372
nsv1057845 CNV gain 25217958
nsv585944 CNV loss 21841781

Variation tolerance for TLDC2 Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TLDC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLDC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TLDC2 Gene

Disorders for TLDC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TLDC2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
aicardi-goutieres syndrome 5
  • aicardi-goutieres syndrome 1
aicardi-goutieres syndrome
  • aicardi-goutieres syndrome 1
- elite association - COSMIC cancer census association via MalaCards
Search TLDC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TLDC2

genes like me logo Genes that share disorders with TLDC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TLDC2 Gene

Publications for TLDC2 Gene

  1. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  2. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 56
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 56

Products for TLDC2 Gene

Sources for TLDC2 Gene